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Session 10: Wednesday, November 18, 2015: Psychosocial Effects of Low Vision Student Presentations Presentations continue next week! ◦ Those presenting should email Rhiannon with your Power Point by Tuesday, November 24th, 2015 I will not have time on Wednesday to put the PowerPoint together before class! Guest Speaker: Peter Parsons Student Presentations: ◦ Alstrom Syndrome – Laura Glass ◦ Coloboma - Carla Giesbrecht ◦ Peter’s Anomaly - Catherine Tellier Current: APSEA O&M Instructor Past: CNIB O&M Instructor and Manager of Programs and Services Has an 8 year-old son Is a goalball superstar and part-time rapper Peter on a recent visit to CNIB Halifax A very rare genetic disease with just over 1000 identified cases worldwide By Laura Glass “Alstrom Syndrome is a rare complex genetic disorder associated with a wide variety of symptoms affecting multiple organ systems of the body.”, (NORD, 2013). Carl-Henry Alstrom was born in 1907 in Sweden received doctorate in psychology in 1935 conducted genetic research in the 40’s In 1959 he described 3 patients in his manuscript describing the symptoms of Alstom Syndrome Is recessively inherited; therefore both of the parents are carriers but will not exhibit the features of Alstrom. Not much is known regarding how this gene works but we do know that when something goes wrong within this gene, the consequences are many and encompass multiple organ systems. Because the features of Alstrom can be so wide-spread and also variable, misdiagnosis is common, especially early on before some of the classic symptoms develop. • Bardet Biedl Syndrome (Blue) • Achromatopsia (Red) • Leber Congenital Amaurosis (Green) • Mitochondrial Disorder (Purple) • Usher (Teal) • Retinitis Pigmentosa (Orange) • Niemann-Pick (Blue) Vision loss Hearing loss Obesity which can lead to Type 2 Diabetes (as early as age 4) Cardiomyopathy – enlargement of the heart’s lower chambers due to a weakened heart muscle Acanthosis Nigricans – a skin disorder characterized by a increased pigmentation and velvety thickening Pancreatitis – due to elevated levels of certain fats in the blood Enlarged liver and spleen Kidney disease, including kidney failure *Not all patients develop all symptoms. They do vary from person to person. • The neural retinal layer contains millions of cells, called the photoreceptors, which are able to respond to light with an electrical signal. • Cone cells, concentrated in the central portion of the retina, contain light-sensitive pigments that enable us to see fine detail and color. • Rod cells, absent from the center of the retina, but dense everywhere else, enable peripheral vision and vision in dim light or darkness. • Retinal dystrophy is a general term to describe a condition where there is degeneration of the cells in the retina. Some of the first vision symptoms, nystagmus and photophobia, are revealed at birth. They are caused by the slow degeneration of the retina. Retinal Dystrophy. Typically the cones deteriorate first in the eyes of children who have Alstrom Syndrome, so the vision that they experience comes only from the rods. As they get older the rods may also stop working. About 39% of people with Alstrom Syndrom develop cataracts. The most likely cause of cataract formation is the substances released from the degenerating retina that damage the lens, causing it to become opaque from the back. Normal Vision Early Visual Defects Late Visual Defects 1. Photophobia and Nystagmus 2. Low Visual Acuity 3. Visual Fields 4. Color Vision Many individuals with Alstrom Syndrome develop photophobia, light sensitivity. This happens because the lack of function in the cone cells causes the rods to become over saturated, especially in bright light. As the the retinal dystrophy progresses, the rods become less sensitive and the photophobia diminishes. Red/orange tinted prescription lenses can help reduce light sensitivity. Move the student to a position within the class where the glare is not reflected off windows, mirrors, wet or shiny surfaces, or white and brightly coloured surfaces. Sunglasses and a hat are worn outdoors and perhaps indoors as well. Usually less than 20/200 by age 3 (Malm, E et al, 2008) By 9 years of age, approximately one-third of patients are totally blind; 50% by age 12, and 90% by age 16 (JD Marshall et al, 2007) Dual media is often used, however Braille literacy must be introduced at a young age Some individuals can read large print into their third decade, although this is rare May benefit from a CCTV and magnifiers • • • • Increasing constriction of visual fields Orientation and mobility training Keep the classroom layout as static as possible Seating in the classroom should be where the child’s seeing field is maximized for visual materials presented and to view the teacher during instruction, usually in the front and centre Due to developing cone-rod dystrophy, color perception is affected Present materials on backgrounds that offer high contrast to the objects being viewed. Students can print or draw using black markers on white paper. Label pictures with color words such as maps or diagrams. Alstrom Syndrome International: They provide support, information, and coordination world-wide to families and professionals in order to treat and cure Alström Syndrome. https://www.alstrom.org/ NORD: National Organization for Rare Diseases. https://rarediseases.org/rare-diseases/alstrom-syndrome/ Our textbook! Foundations of Low Vision. Regardless of the diagnosis we use adaptations/accommodations that fit the specific functional vision implications for each of our students. ……that intelligence is usually unaffected in individuals with Alstrom Syndrome!! Alstrom Syndrome International website. (2015). Supporting those affected by Alstom Syndrome. Retrieved from https://www.alstrom.org/ Practical Genetics. (2007). Alstom Syndrome. Retrieved from http://web.b.ebscohost.com.ezproxy.msvu.ca/ehost/pdfviewer/p dfviewer?sid=120edb8d-d9c6-43b3-bb0b-9e78 3cacce8b%40sessionmgr198&vid=1&hid=109 Malm, E et al. (2008). Full-Field Electroretinography and Marked Variability in Clinical Phenotype of Alström Syndrome. Retrieved from http://archopht.jamanetwork.com/article.aspx?articleid=420223 NORD. (2015). Alstom Syndrom. Retrieved from https://rarediseases.org/rare-diseases/alstrom-syndrome/ Coloboma Presented by Carla Giesbrecht What is a Coloboma Coloboma comes from the Greek word meaning “curtailed” or “unfinished”. Corn and Erin (2012) define a coloboma as a congenital malformation of one or both eyes. • A coloboma forms when the eye fails to develop causing a gap/notch in one or more structures of the eye. • Colobomas affect 1/10 000 infants. Causes of Coloboma Colobomas: • Are an inherited condition that is autosomal-dominant in nature. • Can occur with no previous family history. • May be caused by environmental issues such as fetal alcohol exposure. The Diagnosis of Coloboma The diagnosis is made by an ophthalmologist. • The ophthalmologist uses an ophthalmoscope to examine the eye. • Visual acuity may not be initially assessed because of the age of the child. • Symptoms of the condition occur on a spectrum from mild to severe. • A pediatrician may perform an assessment if an associated syndrome is suspected. https://s-media-cache-ak0.pinimg.com/236x/62/3e/be/623ebe4bd321b8bafa8f0eebe3836279.jpg Parts of the Eye Affected A number of structures of the eye may be affected: • • • • Iris Lens Retina Optic Nerve National Eye Institute A coloboma can also form on the eyelid, however the cause may be different than for the structures affected in the globe of the eye. Iris Coloboma Iris colobomas are the most common form of colobomas. • The pupil of the eye may appear like a teardrop or keyhole. • The iris and vision may be only minimally affected. • The child may experience photophobia, double vision, blurring or ghosting. http://ohiolionseyeresearch.com/files/glossary/coloboma.jpg Lens Coloboma Lens Colobomas: • Affect the lens of the eye. • Will appear as a notch or gap in the lens. • May affect the ciliary body and not involve the lens at all. National Eye Institute Retinal Coloboma Retinal Colobomas: • • • • • • • Occur when the development of the retina is disturbed. Can be bilateral or symmetrical. Can be asymptomatic or cause vision loss. May reduce visual acuity. May cause a visual field loss. May cause a retinal detachment. May cause strabisumus or nystagmaus. Macular Coloboma National Eye Institute Optic Nerve Coloboma The optic nerve can be affected in two ways: 1. The optic nerve is hollowed often called the optic nerve pit. Optic Nerve Coloboma 2. A retinal or iris coloboma that is large enough that it includes the optic nerve. National Eye Institute Morning glory disc anomaly is another coloboma associated with the optic nerve. http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27302008000800004 Effects on Vision The effect of the coloboma is due to the extent of the gap and were it is located in the structure of the eye. • If the coloboma occurs in the eye vision may not be affected. • If the coloboma occurs in the retina or the optic nerve vision could be significantly affected. • Children with colobomas may also experience cataracts, glaucoma, myopia, nystagmus and retinal detachment. Treatment There is currently no medication or surgery to repair the part of the eye that fails to close. • Treatment is dependent upon the extent of the coloboma and varies for individuals. • Management of the coloboma may include: • • • • • • • Glasses or contact lenses Patching Treatment of other eye conditions Treating complications Use of low vision devices Early intervention Genetic counseling Other Effects that May Occur • • • • • • • • Heterochromia Microphthalmia Increased thickness of the cornea Cataracts Glaucoma Retinal dysplasia Myopia or hyperopia Nystagmus Infant with microphthalmia http://ocularpro.com/prosthetic-eye-services-los-angeles/anophthalmia-and-microphthalmia/ Associated Syndromes Colobomas can be associated with a number of syndromes: • CHARGE Syndrome • A syndrome with multiple organs affected, including heart defects, blocked nasal passage, retarded growth or development, genital abnormalities and ear abnormalities and deafness. http://chargesyndrome.org/index.asp Associated Syndromes Continued • • • • • • • Epidermal Naevus Syndrome Cat Eye Syndrome Kabuki Syndrome Pataus’ Syndrome Edward’s Syndrome Wolf-Hirschhorn Syndrome MIDAS Syndrome • Michrophthalmia • Dermal Aplasia • Sclerocornea Infant with Kabuki Syndrome http://syndromespedia.com/kabuki-syndrome.html Seeing Better There are a number of things parents can do to ensure that that their child’s vision develops as well as it can before entering school. • • • • • Ensure that their child wears prescribed eyewear Observe their child in play Minimize visual clutter Seek early intervention Expose their child to as many activities and experiences as possible http://www.telegraph.co.uk/women/mother-tongue/familyadvice/10528194/Pictures-of-our-children-at-play-will-soon-be-museum-pieces.html Vision At School It is important that school staff develops a good understanding of the student’s visual needs. • • • • • Communicate with parents Complete a Functional Vision Assessment if required Complete a Learning Media Assessment if required Implement recommendations Provide service from the TSVI if required https://edueval.wordpress.com/2015/01/25/progressive-vision-in-dubai-private-schools-at-what-works-2015/ Optimizing Student Visual Performance The Texas School for the Blind and Visually Impaired recommend considering the following when optimizing student’s visual performance in the classroom. • Consider the etiology • Effects of light • Field deficits • Eye motor • Posture • Organization • Lighting on work surfaces, projectors and screens • Writing tools and materials • Optical devices Classroom Adaptions and Accommodations Low vision • Use large print materials. • Provide with preferential seating- close to the board and central Verbalize what is been written. • Provide the student with a printed copy of notes. • Pre-teach or review books or movies to be viewed as a whole class. • When the student is writing a test, ensure that the student can read the font before beginning the test; provide the student with extra time to write exams. • Allow the student to explore new environments. • At assemblies or large group gatherings provide preferential seating and explain what is happening. • APHont can be downloaded to use on worksheets. • http://www.aph.org/products/aphont/ • Encourage the use of prescribed glasses. • Encourage the use of their vision. • If it is appropriate and has been prescribed by a low vision specialist the student may benefit from the use of a hand held magnifier of CCTV. • Be aware of visual fatigue. Photophobia • Adjust the distance the student sits from the window or light source as needed, sitting with the students back to the window. • Spot light reading material or use of a filter over top of reading material if bright lighting is an issue. • Avoid or be aware of glare on surfaces. • Student may benefit from wearing sunglasses, hat or visor. • Reduce or diffuse lights. http://lookfordiagnosis.com/mesh_info.php?term=photophobia&lang=1 Visual Field Loss • Ensure that the student is made aware of any changes to the environment. • Provide contrast on stairs and playground. • During physical education ensure that the student is aware of projectiles that are coming towards them. • Announce yourself when you are approaching the student. • Allow the student to view materials through their best visual field. • Teach the student to stop, look and then move. • Avoid visual clutter within the environment. • Tack or tape down scatter mats in the classroom. • Teach the students to push in their chairs. • Provide the student with access to and O&M Specialist. Colour Vision • Provide the student with high contrast materials. • Supplement visual tasks with auditory and tactile information. • Depending on the student they may require similar adaptions as those with photophobia. Contrast • When using a white board write with dark markers such as black. • Avoid the use of red, orange and yellow on white boards and anchor charts. • Provide the student with good photocopies of materials. (Blurred or fuzzy lines are hard to read, provide white space) • Worksheets and written materials should be of an appropriate font size, of high contrast (bold) and contain well-spaced words/letters. A Final Word From A Parent • https://www.youtube.com/watch?v=ZrOgNYCZtDE If Time….. • https://www.youtube.com/watch?v=nHksmsCJgpo Websites Resources • Statewide Vision Resource Center http://www.svrc.vic.edu.au/index.shtml • Teaching Students with Visual Impairment http://www.teachingvisuallyimpaired.com Videos related to CHARGE Syndrome: http://www.perkinselearning.org/videos/webcast/charge-syndrometeaching-strategies-children http://www.perkinselearning.org/videos/webcast/charge-syndromeimpact-of-charge-on-communication-and-learning http://www.perkinselearning.org/videos/webcast/charge-syndromeoverview References Blaikie, A.Medical information on coloboma. Retrieved from http://www.ssc.education.ed.ac.uk/resources/vi&multi/eyeconds/colob.html Corn, Anne and Erin, Jane (Ed.). (2010). Foundations of low vision: Clinical and functional perspectives (2nd ed.). New York: American Foundation for the Blind. Cowan, Chrissy and Texas School for The Blind.Possible accomodations for the student with a visual impairment. Retrieved from http://www.tsbvi.edu/instructional-resources/62-familyengagement/3657-vision-accommodations Genetics Home Reference.Coloboma. Retrieved from http://ghr.nlm.nih.gov/condition/coloboma National Eye Institute.Facts about uveal coloboma. Retrieved from https://nei.nih.gov/health/coloboma/coloboma Patient.Coloboma. Retrieved from http://patient.info/doctor/coloboma Rao, Elsie and Texas School for the Blind.Considerations for low vision students in A classroom. Retrieved from http://www.tsbvi.edu/program-and-administrative-resources/53-resources/programand-administration-resources/3277-considerations-for-low-vision-students-in-a-classroom RNIB.Coloboma. Retrieved from http://www.rnib.org.uk/eye-health-eye-conditions-z-eyeconditions/coloboma Overview of It is a congenital condition which occurs in the first trimester before the anterior chamber of the eye is completely formed. The Dictionary of Eye Terminology describes Peter’s Anomaly as a “central corneal malformation characterized by adhering of the iris to Descemet’s membrane and the endothelium” (Cassin & Solomon, 1990) The cause is unknown but can be: Inherited: ▪ Autosomal recessive (CYP1B1 gene) ▪ Autosomal Dominant (FOXC1, PAX6, or PITX2 gene) Environmental Both Two types: Type I , Type II Very rare Approximately half of the population with PA have low vision early in life and a quarter are legally blind Type I: ▪ may or may not have cataracts; lens does not adhere to the cornea ▪ 80% bilateral Type II: ▪ Corneal clouding is typically denser ▪ cataracts present and adhere to the cornea ▪ Usually bilateral ▪ Iris may or may not be present Anterior chamber Cornea Iris Pupil Lens Clouding of the cornea can be partial, central or complete Microcornea Cornea plana Aniridia Coloboma Cataracts Dislocation of the lens Attachment of the lens to the cornea Glaucoma (90%) Microphthalmia Coloboma of the Choroid Persistent Hyperplastic Primary Vitreous (PHPV) Amblyopia Nystagmus Optic Nerve Hypoplasia or Atrophy Type II associated with more systemic issues developmental delay congenital heart disease structural defects of the neurologic system spinal defects genitourinary abnormalities external ear abnormalities and hearing loss cleft lip and palate short stature Medical care: Medication to manage glaucoma Surgical care: Keratoplasty Lensectomy/vitrectomy Other Care: Genetic counselling Low Vision Specialist Near and Distance Visual Acuity Blurred vision low vision legal blindness Blind Vision may fluctuate May or may not use corrective lenses/protective lenses Implications are varied (FVA/LMA) Visual fields: Peripheral loss Central loss, blind spots Implications are varied (FVA/LMA/O&M) Light sensitivity Glare sensitivity May need to wear visor, tinted glasses, light control (high or low) - May need time to adjust to lighting changes - Contrast Sensitivity - May have difficulty with details, locating objects - May use materials to increase contrast or highlight important visual information (eg. light, black placemat) - CCTV Poor colour vision May not be able to distinguish between similar shades. May need to label items tactually to identify colour Reduced or absent depth perception Implications in mobility and motor planning Eye fatigue Fluctuating visual abilities Eccentric viewing Diploplia Poor night vision Pain or headaches Corneal Disease Information https://nei.nih.gov/health/cornealdisease/ Peter’s Anomaly (genetics diagram) http://disorders.eyes.arizona.edu/handouts/peters-anomaly Peter’s Anomaly (parent video) http://childrenseyefoundation.org/meet-littleambassadors/peters-anomaly-in-children/ Low Vision: A Resource Guide with Adaptations for Students with Visual Impairments (Levack, N.) TSBVI Cassin, B. & Solomon, S. (1990). Dictionary of Eye Terminology, Second Edition. Triad Publishing. p. 206. Corn, A. & Erin, J. (2010). Foundations of Low Vision: Clinical and Functional Perspectives. AFB Press. Giri, G. (2015). Peters Anomaly Clinical Presentation. Retrieved from http://emedicine.medscape.com/article/1200372-clinical#b4 Levack, N. (2004). Low Vision: A Resource Guide with Adaptations for Students with Visual Impairments, Second Edition. TSBVI. U.S. National Library of Medicine. (November 9, 2015). Peter’s Anomaly. Retrieved from http://ghr.nlm.nih.gov/condition/peters-anomaly